XYLT1

xylosyltransferase 1

Summary

This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]

Known Variants465 total

rsidPosition (GRCh37)AllelesClassClinVar
rs159712413916:17,202,554A/G—uncertain significance
rs76570321016:17,202,562C/T—uncertain significance
rs54648490716:17,202,563G/A—uncertain significance
rs144426135616:17,202,567A/G—likely benign
rs92125622116:17,202,576G/A—likely benign
rs250614382416:17,202,595T/G—uncertain significance
rs140497871116:17,202,605G/A—uncertain significance
rs78030329216:17,202,623C/T—uncertain significance
rs20178030616:17,202,624C/T—likely benign
rs76875278216:17,202,625G/A—uncertain significance
rs134842248316:17,202,626T/A—uncertain significance
rs15033436316:17,202,648C/T—likely benign
rs90910212116:17,202,649G/A—uncertain significance
rs13793519416:17,202,664C/T—conflicting classifications of pathogenicity
rs37105808716:17,202,666C/T—likely benign
rs76370792816:17,202,667G/A—uncertain significance
rs75087133116:17,202,693C/T—uncertain significance
rs37772406616:17,202,699G/T—likely benign
rs76973388316:17,202,729C/T—likely benign
rs14135326916:17,202,738C/T—likely benign
rs36809779316:17,202,739G/A—uncertain significance
rs77611255716:17,202,742G/A—uncertain significance
rs76460277116:17,202,750G/A—likely benign
rs3530969416:17,202,757C/T—benign
rs13902566316:17,202,758G/A—uncertain significance
rs132138422216:17,202,763T/C—uncertain significance
rs75284490016:17,202,767C/G—uncertain significance
rs14348182716:17,202,776C/A—benign
rs92426016:17,202,777G/A—benign
rs120633514816:17,202,792G/A—likely benign
rs76962097716:17,202,793C/G—uncertain significance
rs20201765816:17,202,800C/T—uncertain significance
rs3451197416:17,202,801G/A—benign
rs137845664916:17,202,813C/G—uncertain significance
rs134026843016:17,202,825C/T—likely benign
rs78078429216:17,202,866G/T—uncertain significance
rs19958825716:17,202,871T/G—conflicting classifications of pathogenicity
rs76939131416:17,202,872C/A—likely pathogenic
rs77291406316:17,202,880A/G—likely benign
rs56484791616:17,202,892C/T—likely benign
rs649866116:17,202,964T/C—benign
rs92425916:17,202,965G/A—benign
rs478071516:17,211,234A/G—benign
rs478071416:17,211,247T/C—benign
rs720006716:17,211,316C/T—benign
rs75154479416:17,211,483T/C—likely benign
rs20159459416:17,211,487C/A—likely benign
rs78117576516:17,211,495G/T—likely benign
rs20065904916:17,211,503C/G—uncertain significance
rs14728427816:17,211,505G/C—uncertain significance
rs122056766816:17,211,511A/G—uncertain significance
rs156727926116:17,211,515G/A—uncertain significance
rs74639204316:17,211,525C/G—likely benign
rs37487438816:17,211,540C/T—likely benign
rs76099198116:17,211,541G/T—uncertain significance
rs720046616:17,211,545C/T—benign
rs37274163516:17,211,556G/A—uncertain significance
rs14524442116:17,211,558C/G—uncertain significance
rs75850185516:17,211,579G/A—likely benign
rs76739576216:17,211,593C/T—uncertain significance
rs214148420616:17,211,594T/C—likely benign
rs78128510416:17,211,595G/C—uncertain significance
rs250615241616:17,211,598C/T—pathogenic
rs214148422316:17,211,603C/A—likely benign
rs19972798516:17,211,618C/A—likely benign
rs55012521916:17,211,630G/A—likely benign
rs14718340416:17,211,635T/C—uncertain significance
rs202989151616:17,211,636G/A—likely benign
rs74540651216:17,211,639G/A—likely benign
rs133033668916:17,211,642T/C—likely benign
rs133824379516:17,211,643G/T—uncertain significance
rs144661345016:17,211,647A/T—uncertain significance
rs77588150216:17,211,650C/T—uncertain significance
rs74750767516:17,211,651G/A—likely benign
rs13955862716:17,211,675G/A—likely benign
rs36921695516:17,211,682G/A—uncertain significance
rs7475064716:17,211,690G/T—benign
rs14561548616:17,211,702A/G—likely benign
rs75701170316:17,211,707C/G—uncertain significance
rs133418251016:17,211,708C/A—uncertain significance
rs77858121816:17,211,716C/T—uncertain significance
rs18152491216:17,211,722C/T—uncertain significance
rs77954877416:17,211,723G/T—likely benign
rs720159016:17,211,729A/G—benign
rs56868010016:17,211,738C/T—likely benign
rs14248660116:17,211,741C/T—likely benign
rs202989999316:17,211,754A/G—uncertain significance
rs14645757416:17,211,762C/T—likely benign
rs1232543916:17,211,764G/C—benign
rs76496913716:17,211,785G/A—uncertain significance
rs90627535216:17,211,788C/G—uncertain significance
rs214148462116:17,211,791C/G—uncertain significance
rs75801056316:17,211,793A/C—uncertain significance
rs37402041116:17,211,800G/A—uncertain significance
rs13969396416:17,211,834G/A—likely benign
rs74948847216:17,211,840A/T—likely benign
rs202990621416:17,211,843C/G—likely benign
rs1232544216:17,211,848G/A—benign
rs155308916:17,211,942G/C—benign
rs155308816:17,211,982G/T—benign

Showing 100 of 465 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.